Varaico: Literature-Extracted Genetic Variants

Gene:RECQL
Variant:p.R455C
Back to variants list

RECQL

NM_002907.4:p.R455C

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

41327099 (PubMed )
Supplement: 12885_2025_15360_MOESM3_ESM.xlsx › Sheet1

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.

Abu-Libdeh B et al.

The Journal of Clinical Investigation, 2022

RECQ1 Helicase in Genomic Stability and Cancer.

Debnath S et al.

Genes, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM11_ESM.xlsx › Supplementary_Data_8

The DNA repair helicase RECQ1 has a checkpoint-dependent role in mediating DNA damage responses induced by gemcitabine.

Parvathaneni S et al.

The Journal of Biological Chemistry, 2019

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL et al.

Oncogene, 2019

30348992 (PubMed )
Supplement: 41388_2018_536_MOESM6_ESM.xlsx › Germline_Variants

Mutations in RECQL are not associated with breast cancer risk in an Australian population.

Li N et al.

Nature Genetics, 2018

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Fu W et al.

Human Mutation, 2017

Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer.

Sun J et al.

Plos Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."